Comprehensive
Functional Enrichment Analysis of Ovarian Cancer-Associated Genes Derived from GWAS
Data
Hemanth kumar V.M., Govardhan T., Lalithasree K., Adiga Usha and Jyoti B.
Res. J. Biotech.; Vol. 20(10); 49-57;
doi: https://doi.org/10.25303/2010rjbt049057; (2025)
Abstract
Genome-wide association studies (GWAS) have identified multiple risk loci associated
with ovarian cancer. This study integrates GWAS data with bioinformatics analyses
to uncover key genetic loci, biological pathways and molecular interactions implicated
in ovarian cancer. GWAS data from publicly available repositories were analyzed
to identify significant risk loci. Gene Ontology (GO) enrichment, Reactome pathway
mapping and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses were
performed. Protein-protein interaction (PPI) network construction and microRNA (miRNA)
target analysis provided insights into post-transcriptional regulation. Additionally,
metabolomic and transcription factor analyses were conducted to explore systemic
alterations associated with ovarian cancer.
Significant associations were identified with genes involved in DNA damage repair
(ANKLE1, BABAM1), immune modulation (USHBP1) and chromosomal stability. PPI analysis
revealed key regulatory hub proteins, including HGS and SUMO1. miRNA enrichment
analysis highlighted regulatory interactions, particularly with hsa-miR-614 and
hsa-miR-652, suggesting potential epigenetic influences on gene expression. Reactome
pathway analysis identified critical involvement in DNA double-strand break repair
and non-homologous end-joining (NHEJ) pathways. This study provides novel insights
into the genetic and molecular landscape of ovarian cancer, reinforcing the significance
of DNA repair pathways, immune system modulation and epigenetic regulation. These
findings may aid in identifying therapeutic targets and developing precision medicine
approaches for ovarian cancer management.
